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Acrokeratosis verruciformis of Hopf(AKV)

MedGen UID:
75589
Concept ID:
C0265971
Congenital Abnormality; Disease or Syndrome
Synonyms: Acrokeratosis verruciformis; AKV; HOPF DISEASE
SNOMED CT: Acrokeratosis verruciformis of Hopf (400085009); AKV - Acrokeratosis verruciformis (400085009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): ATP2A2 (12q24.11)
 
Monarch Initiative: MONDO:0007048
OMIM®: 101900
Orphanet: ORPHA79151

Definition

Acrokeratosis verruciformis of Hopf (AKV) is a localized disorder of keratinization affecting the distal extremities. Onset occurs early in life (Dhitavat et al., 2003). [from OMIM]

Clinical features

From HPO
Punctate palmoplantar hyperkeratosis
MedGen UID:
870406
Concept ID:
C4024851
Disease or Syndrome
A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.
Acantholysis
MedGen UID:
1687
Concept ID:
C0000887
Pathologic Function
The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.
Acrokeratosis
MedGen UID:
450988
Concept ID:
C0001202
Disease or Syndrome
Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.
Epidermal acanthosis
MedGen UID:
65136
Concept ID:
C0221270
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
Ridged nail
MedGen UID:
140853
Concept ID:
C0423820
Finding
Longitudinal, linear prominences in the nail plate.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Verrucous papule
MedGen UID:
868483
Concept ID:
C4022877
Anatomical Abnormality
A wartlike (with multiple small elevated projections) papule.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcrokeratosis verruciformis of Hopf
Follow this link to review classifications for Acrokeratosis verruciformis of Hopf in Orphanet.

Professional guidelines

PubMed

Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
Hanna N, Lam M, Fleming P, Lynde CW
J Cutan Med Surg 2022 May-Jun;26(3):280-290. Epub 2021 Nov 28 doi: 10.1177/12034754211058405. PMID: 34841914Free PMC Article
Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029

Recent clinical studies

Etiology

Matsumoto A, Gregory N, Rady PL, Tyring SK, Carlson JA
Am J Dermatopathol 2017 May;39(5):370-373. doi: 10.1097/DAD.0000000000000693. PMID: 28426487

Diagnosis

Faina V, Magri F, Sernicola A, Chello C, Gagliostro N, Grieco T
Clin Ter 2019 Nov-Dec;170(6):e418-e420. doi: 10.7417/CT.2019.2168. PMID: 31696902
Matsumoto A, Gregory N, Rady PL, Tyring SK, Carlson JA
Am J Dermatopathol 2017 May;39(5):370-373. doi: 10.1097/DAD.0000000000000693. PMID: 28426487
Cohen PR
Am J Clin Dermatol 2011 Aug 1;12(4):217-31. doi: 10.2165/11586910-000000000-00000. PMID: 21668031
Serarslan G, Balci DD, Homan S
J Dermatolog Treat 2007;18(2):123-5. doi: 10.1080/09546630601121029. PMID: 17520472
Schueller WA
Arch Dermatol 1972 Jul;106(1):81-3. PMID: 5039112

Therapy

Andrade TC, Silva GV, Silva TM, Pinto AC, Nunes AJ, Martelli AC
An Bras Dermatol 2016 Sep-Oct;91(5):639-641. doi: 10.1590/abd1806-4841.20164919. PMID: 27828639Free PMC Article
Serarslan G, Balci DD, Homan S
J Dermatolog Treat 2007;18(2):123-5. doi: 10.1080/09546630601121029. PMID: 17520472
Farro P, Zalaudek I, Ferrara G, Fulgione E, Cicale L, Petrillo G, Zanchini R, Ruocco E, Argenziano G
J Dtsch Dermatol Ges 2004 Jun;2(6):440-2. doi: 10.1046/j.1439-0353.2004.04776.x. PMID: 16281601

Prognosis

Matsumoto A, Gregory N, Rady PL, Tyring SK, Carlson JA
Am J Dermatopathol 2017 May;39(5):370-373. doi: 10.1097/DAD.0000000000000693. PMID: 28426487
Dhitavat J, Macfarlane S, Dode L, Leslie N, Sakuntabhai A, MacSween R, Saihan E, Hovnanian A
J Invest Dermatol 2003 Feb;120(2):229-32. doi: 10.1046/j.1523-1747.2003.t01-1-12045.x. PMID: 12542527

Clinical prediction guides

Atzmony L, Zagairy F, Mawassi B, Shehade M, Tatour Y, Danial-Farran N, Khayat M, Warrour N, Dodiuk-Gad R, Cohen-Barak E
JAMA Dermatol 2024 May 1;160(5):518-524. doi: 10.1001/jamadermatol.2024.0152. PMID: 38536168Free PMC Article
Cohen PR
Am J Clin Dermatol 2011 Aug 1;12(4):217-31. doi: 10.2165/11586910-000000000-00000. PMID: 21668031
Rallis E, Economidi A, Papadakis P, Verros C
Dermatol Online J 2005 Aug 1;11(2):10. PMID: 16150218
Piskin S, Saygin A, Doganay L, Kircuval D, Gurkan E
Yonsei Med J 2004 Oct 31;45(5):956-9. doi: 10.3349/ymj.2004.45.5.956. PMID: 15515213
Dhitavat J, Macfarlane S, Dode L, Leslie N, Sakuntabhai A, MacSween R, Saihan E, Hovnanian A
J Invest Dermatol 2003 Feb;120(2):229-32. doi: 10.1046/j.1523-1747.2003.t01-1-12045.x. PMID: 12542527

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